Incidental Mutation 'R4899:Shoc1'
| ID |
375995 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shoc1
|
| Ensembl Gene |
ENSMUSG00000038598 |
| Gene Name |
shortage in chiasmata 1 |
| Synonyms |
Mzip2, Gm426, AI481877, LOC242489 |
| MMRRC Submission |
042503-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.086)
|
| Stock # |
R4899 (G1)
|
| Quality Score |
167 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
59043753-59138983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59062640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 872
(Y872C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000107547]
|
| AlphaFold |
A2ALV5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000107547
AA Change: Y872C
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000103171
Gene: ENSMUSG00000038598
AA Change: Y872C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
246 |
264 |
N/A |
INTRINSIC |
|
low complexity region
|
543 |
560 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
1189 |
1201 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(6) : Targeted, other(1) Gene trapped(5)
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
C |
G |
3: 40,860,304 (GRCm39) |
|
probably null |
Het |
| Adra2c |
A |
T |
5: 35,437,705 (GRCm39) |
Y159F |
probably damaging |
Het |
| Alkal2 |
T |
A |
12: 30,934,972 (GRCm39) |
S64T |
probably benign |
Het |
| Apbb1ip |
T |
C |
2: 22,713,361 (GRCm39) |
V72A |
unknown |
Het |
| Atp13a5 |
A |
G |
16: 29,197,318 (GRCm39) |
L13P |
probably damaging |
Het |
| Azin2 |
G |
A |
4: 128,828,446 (GRCm39) |
P254S |
probably benign |
Het |
| Bmpr1b |
T |
C |
3: 141,546,444 (GRCm39) |
R481G |
probably damaging |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,157 (GRCm39) |
W288* |
probably null |
Het |
| Cass4 |
A |
G |
2: 172,269,789 (GRCm39) |
T626A |
probably benign |
Het |
| Cep112 |
T |
A |
11: 108,497,110 (GRCm39) |
D683E |
probably damaging |
Het |
| Cfap300 |
A |
T |
9: 8,022,494 (GRCm39) |
S243T |
possibly damaging |
Het |
| Chat |
G |
T |
14: 32,170,934 (GRCm39) |
S188R |
possibly damaging |
Het |
| Cit |
A |
G |
5: 116,001,087 (GRCm39) |
Y162C |
possibly damaging |
Het |
| Clca3a1 |
T |
A |
3: 144,443,722 (GRCm39) |
Y676F |
probably damaging |
Het |
| Clec2h |
A |
G |
6: 128,652,787 (GRCm39) |
N185D |
probably benign |
Het |
| Cnbd2 |
G |
T |
2: 156,181,141 (GRCm39) |
V192F |
probably benign |
Het |
| Col6a3 |
C |
A |
1: 90,730,149 (GRCm39) |
G1112V |
probably damaging |
Het |
| Csta2 |
A |
T |
16: 36,077,731 (GRCm39) |
Y96F |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,914,481 (GRCm39) |
F483S |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,485,018 (GRCm39) |
E1103G |
probably benign |
Het |
| Dync2h1 |
G |
A |
9: 7,131,921 (GRCm39) |
Q1629* |
probably null |
Het |
| Enpp6 |
A |
G |
8: 47,440,118 (GRCm39) |
Y38C |
probably damaging |
Het |
| Epg5 |
T |
A |
18: 78,028,272 (GRCm39) |
L1271Q |
probably damaging |
Het |
| Fam47e |
G |
A |
5: 92,722,528 (GRCm39) |
V75I |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,881,095 (GRCm39) |
D3259G |
probably damaging |
Het |
| Fbxw28 |
T |
C |
9: 109,159,921 (GRCm39) |
D211G |
probably damaging |
Het |
| Flnc |
A |
G |
6: 29,446,842 (GRCm39) |
N990D |
probably benign |
Het |
| Frat1 |
T |
G |
19: 41,818,761 (GRCm39) |
L52R |
probably damaging |
Het |
| Ftmt |
C |
G |
18: 52,464,658 (GRCm39) |
|
probably benign |
Het |
| H2-M1 |
C |
T |
17: 36,982,112 (GRCm39) |
G163D |
probably benign |
Het |
| Hapln1 |
A |
G |
13: 89,749,769 (GRCm39) |
K105E |
possibly damaging |
Het |
| Igkv17-127 |
G |
T |
6: 67,838,381 (GRCm39) |
A31S |
probably benign |
Het |
| Il6st |
T |
C |
13: 112,637,695 (GRCm39) |
L628P |
probably damaging |
Het |
| Kcnj6 |
A |
G |
16: 94,633,472 (GRCm39) |
I213T |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,063,442 (GRCm39) |
|
probably null |
Het |
| Lama2 |
TTTGCGCATT |
TTT |
10: 26,919,639 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
C |
T |
11: 60,600,394 (GRCm39) |
P581L |
probably benign |
Het |
| Mertk |
C |
A |
2: 128,625,845 (GRCm39) |
P660Q |
probably damaging |
Het |
| Mrtfa |
A |
G |
15: 80,902,587 (GRCm39) |
Y241H |
probably damaging |
Het |
| Mtarc2 |
A |
T |
1: 184,577,821 (GRCm39) |
I65N |
probably damaging |
Het |
| Napepld |
A |
G |
5: 21,888,438 (GRCm39) |
Y4H |
probably benign |
Het |
| Ncam1 |
T |
A |
9: 49,456,551 (GRCm39) |
|
probably null |
Het |
| Nuak2 |
A |
T |
1: 132,252,724 (GRCm39) |
K93* |
probably null |
Het |
| Oat |
A |
T |
7: 132,165,951 (GRCm39) |
D211E |
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,810 (GRCm39) |
Q91R |
probably benign |
Het |
| Or2aj6 |
G |
A |
16: 19,442,950 (GRCm39) |
A300V |
probably benign |
Het |
| Or4c109 |
A |
C |
2: 88,818,454 (GRCm39) |
L31V |
probably null |
Het |
| Or51b17 |
A |
G |
7: 103,542,672 (GRCm39) |
I90T |
possibly damaging |
Het |
| Or7a39 |
A |
T |
10: 78,715,041 (GRCm39) |
S12C |
probably benign |
Het |
| Pde4dip |
C |
A |
3: 97,616,874 (GRCm39) |
K1789N |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,211,862 (GRCm39) |
I1322V |
possibly damaging |
Het |
| Pih1d1 |
A |
G |
7: 44,803,951 (GRCm39) |
|
probably benign |
Het |
| Plekhd1 |
T |
C |
12: 80,769,101 (GRCm39) |
S454P |
probably damaging |
Het |
| Polr2h |
G |
A |
16: 20,539,303 (GRCm39) |
V89M |
probably damaging |
Het |
| Pptc7 |
G |
A |
5: 122,422,780 (GRCm39) |
G17S |
possibly damaging |
Het |
| Pramel55 |
T |
C |
5: 95,949,586 (GRCm39) |
V111A |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,356 (GRCm39) |
V602A |
probably damaging |
Het |
| Rnf123 |
C |
T |
9: 107,940,879 (GRCm39) |
R654H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Samsn1 |
A |
G |
16: 75,675,991 (GRCm39) |
S135P |
probably damaging |
Het |
| Sgsm3 |
A |
G |
15: 80,890,980 (GRCm39) |
N147S |
probably benign |
Het |
| Slc22a29 |
T |
C |
19: 8,138,933 (GRCm39) |
T510A |
probably benign |
Het |
| Smc4 |
T |
A |
3: 68,939,144 (GRCm39) |
H978Q |
probably damaging |
Het |
| Sox7 |
G |
A |
14: 64,185,927 (GRCm39) |
R321H |
probably damaging |
Het |
| Spred3 |
T |
C |
7: 28,861,258 (GRCm39) |
D307G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,900,875 (GRCm39) |
D11E |
probably benign |
Het |
| Tob1 |
ACAGCAGCAGCAGCAGCAGCAGCAGCA |
ACAGCAGCAGCAGCAGCAGCAGCA |
11: 94,105,278 (GRCm39) |
|
probably benign |
Het |
| Top2b |
A |
T |
14: 16,387,313 (GRCm38) |
I134F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,020,563 (GRCm39) |
R206* |
probably null |
Het |
| Ttc3 |
A |
T |
16: 94,230,314 (GRCm39) |
N837I |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,549 (GRCm39) |
T72A |
possibly damaging |
Het |
| Vmn2r10 |
A |
G |
5: 109,151,324 (GRCm39) |
S97P |
probably damaging |
Het |
| Zfp2 |
T |
A |
11: 50,790,841 (GRCm39) |
I401F |
probably damaging |
Het |
| Zfp629 |
T |
C |
7: 127,210,190 (GRCm39) |
T540A |
possibly damaging |
Het |
| Zfr |
G |
A |
15: 12,166,231 (GRCm39) |
V834I |
probably benign |
Het |
|
| Other mutations in Shoc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Shoc1
|
APN |
4 |
59,086,961 (GRCm39) |
missense |
probably benign |
|
|
IGL00574:Shoc1
|
APN |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01333:Shoc1
|
APN |
4 |
59,047,870 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02282:Shoc1
|
APN |
4 |
59,111,114 (GRCm39) |
missense |
unknown |
|
|
IGL02418:Shoc1
|
APN |
4 |
59,049,075 (GRCm39) |
splice site |
probably benign |
|
|
IGL02621:Shoc1
|
APN |
4 |
59,062,668 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03028:Shoc1
|
APN |
4 |
59,094,274 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL03112:Shoc1
|
APN |
4 |
59,049,355 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03137:Shoc1
|
APN |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL03220:Shoc1
|
APN |
4 |
59,082,378 (GRCm39) |
nonsense |
probably null |
|
|
IGL03386:Shoc1
|
APN |
4 |
59,069,315 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
1mM(1):Shoc1
|
UTSW |
4 |
59,048,024 (GRCm39) |
nonsense |
probably null |
|
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0071:Shoc1
|
UTSW |
4 |
59,059,643 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0194:Shoc1
|
UTSW |
4 |
59,066,534 (GRCm39) |
splice site |
probably benign |
|
|
R0366:Shoc1
|
UTSW |
4 |
59,099,410 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0680:Shoc1
|
UTSW |
4 |
59,043,967 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1419:Shoc1
|
UTSW |
4 |
59,064,457 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1599:Shoc1
|
UTSW |
4 |
59,072,349 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1699:Shoc1
|
UTSW |
4 |
59,113,926 (GRCm39) |
missense |
unknown |
|
|
R1799:Shoc1
|
UTSW |
4 |
59,099,383 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1832:Shoc1
|
UTSW |
4 |
59,066,441 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1870:Shoc1
|
UTSW |
4 |
59,054,142 (GRCm39) |
splice site |
probably benign |
|
|
R2076:Shoc1
|
UTSW |
4 |
59,082,410 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2170:Shoc1
|
UTSW |
4 |
59,069,215 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2870:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2871:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2872:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2873:Shoc1
|
UTSW |
4 |
59,093,850 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3026:Shoc1
|
UTSW |
4 |
59,062,656 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R3079:Shoc1
|
UTSW |
4 |
59,047,848 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R3853:Shoc1
|
UTSW |
4 |
59,047,390 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3914:Shoc1
|
UTSW |
4 |
59,094,201 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4006:Shoc1
|
UTSW |
4 |
59,076,500 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4364:Shoc1
|
UTSW |
4 |
59,082,294 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4387:Shoc1
|
UTSW |
4 |
59,060,915 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4454:Shoc1
|
UTSW |
4 |
59,092,383 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4811:Shoc1
|
UTSW |
4 |
59,082,404 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4853:Shoc1
|
UTSW |
4 |
59,072,345 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5090:Shoc1
|
UTSW |
4 |
59,111,108 (GRCm39) |
missense |
unknown |
|
|
R5169:Shoc1
|
UTSW |
4 |
59,059,618 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R5297:Shoc1
|
UTSW |
4 |
59,047,543 (GRCm39) |
missense |
probably benign |
|
|
R5400:Shoc1
|
UTSW |
4 |
59,082,432 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5419:Shoc1
|
UTSW |
4 |
59,049,017 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5668:Shoc1
|
UTSW |
4 |
59,047,399 (GRCm39) |
missense |
probably benign |
|
|
R5770:Shoc1
|
UTSW |
4 |
59,092,466 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5783:Shoc1
|
UTSW |
4 |
59,076,239 (GRCm39) |
nonsense |
probably null |
|
|
R5929:Shoc1
|
UTSW |
4 |
59,092,497 (GRCm39) |
nonsense |
probably null |
|
|
R6209:Shoc1
|
UTSW |
4 |
59,043,869 (GRCm39) |
makesense |
probably null |
|
|
R6230:Shoc1
|
UTSW |
4 |
59,099,345 (GRCm39) |
missense |
probably benign |
|
|
R6233:Shoc1
|
UTSW |
4 |
59,076,245 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6351:Shoc1
|
UTSW |
4 |
59,069,317 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6785:Shoc1
|
UTSW |
4 |
59,049,066 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6884:Shoc1
|
UTSW |
4 |
59,059,652 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7355:Shoc1
|
UTSW |
4 |
59,076,155 (GRCm39) |
missense |
probably benign |
|
|
R7423:Shoc1
|
UTSW |
4 |
59,076,264 (GRCm39) |
missense |
probably benign |
0.27 |
|
R7484:Shoc1
|
UTSW |
4 |
59,062,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7560:Shoc1
|
UTSW |
4 |
59,076,140 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7999:Shoc1
|
UTSW |
4 |
59,094,162 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8198:Shoc1
|
UTSW |
4 |
59,065,174 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8979:Shoc1
|
UTSW |
4 |
59,047,276 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGGTGCATGTTAAAGAAGTTACAC -3'
(R):5'- TGTTTTCCAGTTGAGGCCGC -3'
Sequencing Primer
(F):5'- CTCTATGAATAGCAATCGGAACAAAG -3'
(R):5'- CACAGGTCAGGCTAGCACAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation